Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Hacettepe Dept. |
RCV001291994 | SCV001480492 | likely pathogenic | Inflammatory skin and bowel disease, neonatal, 1 | 2020-01-27 | no assertion criteria provided | clinical testing | The c.851T>C (p.Ile284Thr) located in exon 8 (GRCh37, NM_003183.4) of ADAM17 has not been previously reported in the literature. Index patient was a 17 year-old-Turkish male with high fever, high Acute Phase Reactant Levels, and skin lesions. The variant segregation was validated by Sanger sequencing. Parents and two unaffected siblings were heterozygous for the p.Ile284Thr variant. The alteration on ADAM17 gave the highest pathogenicity scores and estimated as disease causing within six different variant prediction tools between remaining candidates following whole exome sequencing. This genetic alteration was not present in our in-house database which comprises 408clinically unrelated Turkish individuals. In summary, the c.851T>C; p.Ile284Thr variant meets our criteria to be classified as Likely pathogenic. |